ClinVar Miner

Variants from Molecular Genetics, Royal Melbourne Hospital

Location: Australia  Primary collection method: clinical testing
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign total
319 212 481 78 140 1230

Gene and significance breakdown #

Total genes and gene combinations: 615
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
PKD1 18 5 13 1 0 37
RYR1 9 1 26 1 0 37
TTN 5 7 4 9 3 28
COL4A4 7 11 6 0 1 25
ACVRL1 9 5 4 0 0 18
MYBPC3 7 4 7 0 0 18
DSP 4 2 4 2 0 12
ENG 7 0 5 0 0 12
FLNC 2 1 8 0 0 11
SPAST 4 5 1 1 0 11
ABCA4 6 3 1 0 0 10
COL4A3, MFF-DT 3 1 4 0 1 9
LDLR 5 2 1 0 1 9
CLCN1 6 0 2 0 0 8
COL1A1 4 1 1 1 1 8
ENG, LOC102723566 3 4 0 1 0 8
EPHB4 3 2 3 0 0 8
FBN1 1 2 1 3 1 8
SCN5A 0 1 7 0 0 8
LMNA 2 2 2 1 0 7
NOTCH3 2 3 2 0 0 7
SQSTM1 0 1 6 0 0 7
CASR 1 2 3 0 0 6
COL4A5 0 4 2 0 0 6
COL6A3 0 0 6 0 0 6
COL7A1 2 4 0 0 0 6
SACS 0 1 4 1 0 6
ACTN2 0 2 2 1 0 5
CAPN3 2 0 3 0 0 5
DYSF 2 0 2 1 0 5
FHOD3 0 0 4 0 1 5
KCNQ1 4 0 1 0 0 5
MME 1 0 4 0 0 5
MYH7 0 2 2 1 0 5
PYGM 5 0 0 0 0 5
SPG7 3 0 1 0 1 5
TGFBR1 0 3 1 1 0 5
ACTA2 3 0 1 0 0 4
ALMS1 1 0 0 0 3 4
ANO5 3 1 0 0 0 4
CHCHD10 0 0 3 1 0 4
COL4A1 0 1 3 0 0 4
COL5A1 1 0 3 0 0 4
GALC 0 1 2 0 1 4
GCK 3 1 0 0 0 4
GH-LCR, SCN4A 2 0 2 0 0 4
HNF1A 1 1 1 0 1 4
HNF4A 1 1 2 0 0 4
KIF1A 0 0 2 0 2 4
LRRK2 1 0 2 0 1 4
MAPT 1 0 2 1 0 4
NEXN 0 1 2 1 0 4
PKHD1 2 1 0 1 0 4
PLEC 1 0 3 0 0 4
POLR3A 2 0 2 0 0 4
PRKN 2 1 0 1 0 4
RBM20 1 0 2 0 1 4
SOD1 2 2 0 0 0 4
UMOD 2 1 1 0 0 4
VPS13D 0 0 4 0 0 4
ATM 2 0 0 0 1 3
ATM, C11orf65 1 1 1 0 0 3
ATP7B 2 0 0 0 1 3
CACNA1G 0 0 3 0 0 3
CC2D2A 1 1 0 0 1 3
CFTR 2 0 1 0 0 3
COL2A1 1 1 1 0 0 3
COQ8A 1 1 0 0 1 3
CRB2 1 0 2 0 0 3
CSRP3 0 0 2 1 0 3
DES 1 1 0 0 1 3
DMD 0 0 3 0 0 3
DNAH5 2 0 1 0 0 3
EP300 1 0 1 1 0 3
ERCC2 2 0 1 0 0 3
FPGT-TNNI3K, TNNI3K 0 0 3 0 0 3
GAA 1 0 1 0 1 3
GJB1 1 2 0 0 0 3
GRN 1 0 2 0 0 3
HSPB1 1 1 1 0 0 3
KCNH2 1 0 2 0 0 3
KIF5A 0 2 1 0 0 3
KMT2C 0 0 2 0 1 3
KRIT1 2 1 0 0 0 3
MYLK 0 0 3 0 0 3
MYO7A 0 0 3 0 0 3
NF1 1 1 1 0 0 3
NPC1 0 0 2 0 1 3
OTOF 2 0 1 0 0 3
PAH 2 0 0 0 1 3
PNPLA6 0 1 2 0 0 3
POLG, POLGARF 0 0 0 0 3 3
PSEN1 2 1 0 0 0 3
RAI1 0 1 0 1 1 3
SCN2A 0 1 2 0 0 3
SPG11 1 1 1 0 0 3
SYNE1 0 1 0 0 2 3
TERT 0 1 1 0 1 3
TGFB3 0 1 2 0 0 3
TPM1 1 0 2 0 0 3
USH2A 0 0 2 0 1 3
VCL 0 0 2 1 0 3
AAAS 0 0 2 0 0 2
AARS1 0 0 2 0 0 2
ABCA1 0 1 0 1 0 2
ABCC8 0 0 2 0 0 2
ACTB 1 0 0 0 1 2
ADAMTS2 0 0 1 0 1 2
ADGRV1 0 0 1 0 1 2
ALDH18A1 0 0 2 0 0 2
ALPK3 0 1 1 0 0 2
ALS2 0 1 1 0 0 2
AMMECR1 0 0 2 0 0 2
APOB 1 0 0 0 1 2
ARHGEF10 0 0 1 1 0 2
ASS1 0 1 1 0 0 2
BBS1, ZDHHC24 1 0 1 0 0 2
BEST1 1 0 1 0 0 2
BLTP1 0 0 2 0 0 2
CACNA1A 0 0 2 0 0 2
CACNA1S 0 0 1 0 1 2
CARMIL2 0 1 1 0 0 2
CASD1, SGCE 0 0 2 0 0 2
CDK8 1 0 1 0 0 2
CHUK-DT, CWF19L1 0 0 1 0 1 2
COL11A1 0 0 0 0 2 2
COL1A2 1 1 0 0 0 2
COL3A1 0 0 1 1 0 2
COL5A2 0 0 1 0 1 2
CPT2 2 0 0 0 0 2
CYP24A1 2 0 0 0 0 2
DCAF17 0 0 0 0 2 2
DCC 1 0 0 1 0 2
DCTN1 0 1 1 0 0 2
DHCR7 2 0 0 0 0 2
DHTKD1 1 1 0 0 0 2
DSC2 1 0 0 0 1 2
DUOX2 0 0 1 1 0 2
DYNC1H1 0 0 2 0 0 2
ELN 0 1 1 0 0 2
EPHB4, LOC126860124 0 2 0 0 0 2
FARSA 0 1 1 0 0 2
FAT2, SLC36A1 0 0 1 1 0 2
FBN2 0 0 1 1 0 2
FERMT1 2 0 0 0 0 2
FTCD 1 0 1 0 0 2
FUS 0 0 2 0 0 2
G6PD 2 0 0 0 0 2
GBE1 0 1 1 0 0 2
GJB2 2 0 0 0 0 2
GNE 1 0 1 0 0 2
HARS1 0 0 2 0 0 2
HMBS 1 1 0 0 0 2
HUWE1 0 0 2 0 0 2
IFIH1 0 1 0 1 0 2
IFT140 1 1 0 0 0 2
IHH 0 0 2 0 0 2
INF2 0 0 2 0 0 2
ITPR1 0 0 2 0 0 2
JMJD8, STUB1 0 0 2 0 0 2
JUP 0 0 2 0 0 2
KAT6A 0 1 1 0 0 2
KCNJ11 0 1 0 0 1 2
KDM6B 0 0 0 0 2 2
KIF1C 0 0 2 0 0 2
KMT2E 0 0 2 0 0 2
KRT5 1 0 1 0 0 2
LAMA5 0 0 2 0 0 2
LOC126861897, MHRT, MYH7 0 0 2 0 0 2
LOC126861898, MYH7 0 1 1 0 0 2
LRP5 0 1 0 0 1 2
LZTR1 0 1 1 0 0 2
MAN2B1 0 1 0 0 1 2
MIR1225, PKD1 1 0 1 0 0 2
MMUT 2 0 0 0 0 2
MPZ 0 1 1 0 0 2
MYH14 0 0 1 1 0 2
MYH3 0 1 0 0 1 2
NAA15 0 0 2 0 0 2
NEK1 0 1 0 1 0 2
OPTN 0 1 0 0 1 2
PHEX 2 0 0 0 0 2
PHEX, PTCHD1 0 0 2 0 0 2
PKD2 1 0 1 0 0 2
PKP2 2 0 0 0 0 2
POLG 2 0 0 0 0 2
POLR1C 0 1 1 0 0 2
POLR2F, SOX10 0 0 2 0 0 2
POMGNT1, TSPAN1 0 1 1 0 0 2
PPARG 0 1 1 0 0 2
RNF216 0 0 2 0 0 2
ROBO4 0 0 2 0 0 2
RP1L1 0 1 1 0 0 2
RUBCN 0 0 1 0 1 2
RYR2 1 0 1 0 0 2
SBF1 0 0 2 0 0 2
SCAF4 0 0 1 1 0 2
SLC12A3 2 0 0 0 0 2
SLC22A12 0 1 1 0 0 2
SNCA 0 1 1 0 0 2
SPG21 0 0 2 0 0 2
SPTBN2 0 1 1 0 0 2
SZT2 0 0 2 0 0 2
TBC1D8B 0 0 1 1 0 2
TBK1 0 1 1 0 0 2
TET3 0 0 2 0 0 2
TGFB2 0 0 1 1 0 2
TGFBR2 0 0 1 1 0 2
THRB 2 0 0 0 0 2
TMEM237 1 1 0 0 0 2
TMPRSS3 2 0 0 0 0 2
TNNT2 0 1 1 0 0 2
TSC1 0 0 0 0 2 2
TSC2 1 0 0 0 1 2
WDR19 0 1 1 0 0 2
AARS2 1 0 0 0 0 1
ABCA4, LOC126805793 1 0 0 0 0 1
ABCC6 0 0 0 0 1 1
ABCG5, DYNC2LI1 1 0 0 0 0 1
ABHD12 0 1 0 0 0 1
ACADSB 0 0 0 0 1 1
ACADVL 0 1 0 0 0 1
ACAN 0 0 0 1 0 1
ACAT1 0 0 0 0 1 1
ACTA1 0 0 1 0 0 1
ACTG1 0 1 0 0 0 1
ACTN4 0 0 1 0 0 1
ADAM17, IAH1 0 0 1 0 0 1
ADCY5 0 0 1 0 0 1
AFF3 0 0 0 0 1 1
AFG3L2, TUBB6 0 0 0 1 0 1
AGXT 1 0 0 0 0 1
AHI1 0 0 0 0 1 1
ALB 0 1 0 0 0 1
ALDH7A1 1 0 0 0 0 1
ANKRD11 0 0 1 0 0 1
ANKRD31 0 1 0 0 0 1
ANXA11 0 0 0 0 1 1
APOA1 1 0 0 0 0 1
APP 0 0 1 0 0 1
APPL1, ASB14 0 0 0 1 0 1
AR 0 0 0 0 1 1
AR, LOC109504725 0 0 0 0 1 1
ARFGEF1 0 0 0 1 0 1
ARSA 1 0 0 0 0 1
ARSB, LOC129994126 0 1 0 0 0 1
ASCL1, PAH 0 0 0 0 1 1
ASH1L 0 0 0 0 1 1
ASL 0 1 0 0 0 1
ATAD3A 0 0 0 0 1 1
ATL1 1 0 0 0 0 1
ATP1A1 1 0 0 0 0 1
ATP1A2 0 0 1 0 0 1
ATP1A3 0 1 0 0 0 1
ATP2A1 0 0 1 0 0 1
ATP2A2 0 0 1 0 0 1
ATRIP, ATRIP-TREX1, TREX1 0 1 0 0 0 1
AXDND1, NPHS2 1 0 0 0 0 1
BCS1L 1 0 0 0 0 1
BEST1, FTH1 1 0 0 0 0 1
BICD2 0 0 1 0 0 1
BLK 0 0 0 0 1 1
BMPR2 0 0 0 0 1 1
BRAF, LOC126860202 0 0 1 0 0 1
BRCA2 1 0 0 0 0 1
BSCL2, HNRNPUL2-BSCL2 0 0 1 0 0 1
BTD 0 0 0 0 1 1
C14orf39 0 0 1 0 0 1
CACNA1A, LOC108663985 0 0 0 0 1 1
CACNA1C 0 0 1 0 0 1
CASK 0 0 0 0 1 1
CASQ2 0 0 1 0 0 1
CAV3, OXTR 0 0 0 1 0 1
CCNH, RASA1 0 0 1 0 0 1
CD2AP 0 0 1 0 0 1
CDCA7L, DNAH11 0 1 0 0 0 1
CDHR1 1 0 0 0 0 1
CDK13 0 1 0 0 0 1
CEP290 1 0 0 0 0 1
CERS3 0 0 1 0 0 1
CFHR2 0 0 0 0 1 1
CFTR, LOC111674472 1 0 0 0 0 1
CHD5 0 0 0 1 0 1
CHD8, LOC126861888 0 0 1 0 0 1
CLCN3 0 0 1 0 0 1
CLCN5, LOC126863258 0 0 1 0 0 1
CLDN14 0 0 1 0 0 1
CLDN16 0 1 0 0 0 1
COASY 1 0 0 0 0 1
COG4 0 1 0 0 0 1
COG7 0 0 0 0 1 1
COL1A1, LOC126862586 1 0 0 0 0 1
COL5A1, LOC101448202 0 0 1 0 0 1
COL6A2 0 0 1 0 0 1
COLEC11 1 0 0 0 0 1
COLQ 1 0 0 0 0 1
COMP 0 1 0 0 0 1
CPOX 0 1 0 0 0 1
CPT2, LOC129930561 1 0 0 0 0 1
CREBBP 0 0 1 0 0 1
CSF1R 0 1 0 0 0 1
CTSA 0 0 0 0 1 1
CWF19L1 0 0 1 0 0 1
CYLD 1 0 0 0 0 1
CYP4V2, LOC129993526 0 0 0 0 1 1
CYP7B1 1 0 0 0 0 1
DAB1 0 0 0 0 1 1
DAG1 0 0 1 0 0 1
DCPS 0 0 0 0 1 1
DDHD2 0 1 0 0 0 1
DGKE 0 0 0 1 0 1
DGUOK 0 0 0 0 1 1
DNAH11 0 1 0 0 0 1
DNAJB11 0 0 0 0 1 1
DNM2 1 0 0 0 0 1
DNMT1 0 0 1 0 0 1
DOP1A, PGM3 0 0 1 0 0 1
DPF2 0 0 1 0 0 1
DPYD 1 0 0 0 0 1
DPYS 0 1 0 0 0 1
DRP2 0 0 0 0 1 1
DSC2, DSCAS 0 0 1 0 0 1
DSG2 0 0 1 0 0 1
DYNC2H1 0 0 0 0 1 1
EDEM3 0 0 0 0 1 1
EHMT1 0 0 1 0 0 1
ELAC2 0 0 0 0 1 1
EMC10 0 0 0 0 1 1
ERCC6 1 0 0 0 0 1
ETFB 0 0 0 0 1 1
ETFDH 0 0 1 0 0 1
EXT2 1 0 0 0 0 1
EYS, PHF3 0 1 0 0 0 1
FAM20C 0 0 0 1 0 1
FAN1, MTMR10 1 0 0 0 0 1
FANCG 0 0 0 0 1 1
FARS2 0 1 0 0 0 1
FBRSL1 0 0 0 0 1 1
FBXO38 0 0 0 0 1 1
FGF14 0 0 1 0 0 1
FIG4 0 0 1 0 0 1
FKRP 1 0 0 0 0 1
FKTN 0 0 0 0 1 1
FOXE3, LINC01389 0 0 1 0 0 1
FOXP1 1 0 0 0 0 1
GACAT2, MTCL1 0 0 0 0 1 1
GANAB 0 0 1 0 0 1
GARS1 0 0 1 0 0 1
GATA4 0 0 0 1 0 1
GATAD2A 0 0 1 0 0 1
GBA1, LOC106627981 1 0 0 0 0 1
GCDH, LOC126862860, SYCE2 0 0 0 0 1 1
GDAP1 0 0 1 0 0 1
GFAP 0 1 0 0 0 1
GFPT1 0 0 0 0 1 1
GIGYF2, KCNJ13 0 1 0 0 0 1
GJA3 0 1 0 0 0 1
GJB4 0 0 1 0 0 1
GLA, RPL36A-HNRNPH2 0 0 1 0 0 1
GLI2 0 0 0 0 1 1
GLMN 1 0 0 0 0 1
GLRA1 0 0 0 0 1 1
GNB4 0 0 1 0 0 1
GREB1L 0 0 1 0 0 1
GRIA1 0 0 1 0 0 1
GRIN2D 0 0 0 1 0 1
GRN, LOC125177489 1 0 0 0 0 1
GTPBP2 0 0 1 0 0 1
GUCY2D 0 0 0 0 1 1
GYG1 1 0 0 0 0 1
H4C6 0 0 1 0 0 1
HERC2 0 0 0 1 0 1
HEXA 0 0 0 0 1 1
HFE 1 0 0 0 0 1
HJV 1 0 0 0 0 1
HNF1B 0 0 1 0 0 1
HNF1B, LOC126862549 1 0 0 0 0 1
HNRNPA1 0 0 1 0 0 1
HPS5 0 0 0 0 1 1
HSPG2 0 0 1 0 0 1
HTRA1 0 0 1 0 0 1
IBA57 0 0 1 0 0 1
IL17RD, LOC126806689 0 0 1 0 0 1
INS, INS-IGF2 0 0 1 0 0 1
IPO8 1 0 0 0 0 1
IRF2BPL 0 0 0 0 1 1
IRF8 0 0 0 1 0 1
ITGA6, PDK1 0 0 0 1 0 1
JAG2 0 0 1 0 0 1
JAM3 0 0 0 0 1 1
KBTBD13 0 0 1 0 0 1
KCNA2 1 0 0 0 0 1
KCNC3 1 0 0 0 0 1
KCNH1 0 0 0 0 1 1
KCNJ1 0 0 0 0 1 1
KCNJ2 0 0 1 0 0 1
KCNMA1 0 1 0 0 0 1
KCNQ2 1 0 0 0 0 1
KCTD17 0 0 1 0 0 1
KDF1 0 0 0 1 0 1
KDM5C 0 0 1 0 0 1
KIF1A, LOC126806583 0 0 1 0 0 1
KIF21B 0 0 1 0 0 1
KIF7 0 1 0 0 0 1
KMT2B 0 0 0 0 1 1
KRT14 1 0 0 0 0 1
KRT17 1 0 0 0 0 1
KRT9 1 0 0 0 0 1
KYNU 1 0 0 0 0 1
LAMA2 0 0 0 1 0 1
LAMC2 0 0 0 1 0 1
LAMP2 0 0 0 1 0 1
LDB3, LOC110121486 0 1 0 0 0 1
LDLRAP1 0 0 1 0 0 1
LHFPL5 0 0 1 0 0 1
LIFR 0 0 1 0 0 1
LIG4 1 0 0 0 0 1
LIPH 1 0 0 0 0 1
LITAF 0 0 1 0 0 1
LMNA, LOC126805877 0 1 0 0 0 1
LMOD3 0 0 0 0 1 1
LMX1B 1 0 0 0 0 1
LOC102724058, SCN1A 0 0 0 1 0 1
LOC106029312, NCF1 1 0 0 0 0 1
LOC114827850, MYL2 0 1 0 0 0 1
LOC126806068, RYR2 0 0 1 0 0 1
LOC126806425, TTN 0 1 0 0 0 1
LOC126806913, OPA1 0 0 0 0 1 1
LOC126807212, TLL1 0 0 1 0 0 1
LOC126807323, TRIO 0 0 0 0 1 1
LOC126807526, MATR3 0 0 1 0 0 1
LOC126860346, NRG1 0 0 0 0 1 1
LOC126861897, MYH7 0 0 1 0 0 1
LOC126862264, MEFV 0 0 1 0 0 1
LOC126862361, SLC12A3 1 0 0 0 0 1
LOC126862902, RYR1 0 0 0 1 0 1
LOC126863256, WDR45 0 0 0 1 0 1
LOC127407129, RFX6 0 1 0 0 0 1
LOC129391064, MAN2B1 1 0 0 0 0 1
LOC129992813, PKD2 1 0 0 0 0 1
LOC129999375, PODXL 0 0 0 0 1 1
LOC130067862, TYMP 0 0 0 0 1 1
LORICRIN 0 0 0 1 0 1
LOX, SRFBP1 1 0 0 0 0 1
LRP6 0 0 1 0 0 1
LTBP3 0 0 1 0 0 1
LYST 0 0 0 0 1 1
MAK 0 0 1 0 0 1
MALT1 0 0 1 0 0 1
MANBA 0 0 0 0 1 1
MAP1B 0 0 0 0 1 1
MATR3 0 0 1 0 0 1
MCCC1 0 1 0 0 0 1
MEFV 1 0 0 0 0 1
MEIS2 0 1 0 0 0 1
MIR6511B1, PKD1 0 1 0 0 0 1
MITF 1 0 0 0 0 1
MKKS 0 1 0 0 0 1
MKS1 0 0 1 0 0 1
MORC2 0 0 1 0 0 1
MPDZ 1 0 0 0 0 1
MTCL1 0 0 1 0 0 1
MTHFR 0 1 0 0 0 1
MUTYH 1 0 0 0 0 1
MVP-DT, PRRT2 0 0 1 0 0 1
MYH11 0 0 1 0 0 1
MYH6 0 0 0 1 0 1
MYH9 0 0 1 0 0 1
MYMK 1 0 0 0 0 1
MYO15A 0 0 0 1 0 1
MYO6 1 0 0 0 0 1
NAXE 0 0 0 0 1 1
NDUFB3 0 1 0 0 0 1
NEB 0 0 0 0 1 1
NEDD4L 0 0 1 0 0 1
NF2 0 0 1 0 0 1
NIPAL4 1 0 0 0 0 1
NIPBL 0 0 0 1 0 1
NOD2 0 0 1 0 0 1
NOTCH1 0 0 1 0 0 1
NPHS2 0 0 1 0 0 1
NSD2 0 0 1 0 0 1
NSDHL 0 0 1 0 0 1
NUDT2 0 1 0 0 0 1
OPA3 0 0 1 0 0 1
P3H2 0 0 0 0 1 1
PAX2 1 0 0 0 0 1
PAX6 0 1 0 0 0 1
PCARE 1 0 0 0 0 1
PCYT2 0 1 0 0 0 1
PDGFB 1 0 0 0 0 1
PDGFRB 0 0 1 0 0 1
PDX1 0 0 1 0 0 1
PEX1 0 0 0 0 1 1
PFN1 0 1 0 0 0 1
PGAP3 0 1 0 0 0 1
PHIP 0 1 0 0 0 1
PHYH 0 0 0 0 1 1
PIGN 0 1 0 0 0 1
PIK3CA 0 1 0 0 0 1
PINK1 0 0 1 0 0 1
PLCE1 0 0 1 0 0 1
PLEKHG5 0 0 1 0 0 1
PLOD3 0 0 1 0 0 1
PLS3 0 1 0 0 0 1
PMEPA1 0 0 1 0 0 1
POGZ 0 0 1 0 0 1
POLH 1 0 0 0 0 1
POT1 0 1 0 0 0 1
PRKCG 0 0 1 0 0 1
PRKCSH 1 0 0 0 0 1
PRNP 0 1 0 0 0 1
PSAP 1 0 0 0 0 1
PTEN 1 0 0 0 0 1
PTPN4 0 0 1 0 0 1
PUM1 0 0 1 0 0 1
RET 0 0 1 0 0 1
ROR2 0 0 1 0 0 1
RP1 0 1 0 0 0 1
RPGRIP1 0 0 0 0 1 1
RPGRIP1L 1 0 0 0 0 1
RS1 0 1 0 0 0 1
SAR1B 0 0 0 0 1 1
SCN1A 0 0 1 0 0 1
SCN1A, SCN9A 0 0 0 0 1 1
SCN4A 0 1 0 0 0 1
SCN8A 0 0 1 0 0 1
SCNN1B 0 0 0 1 0 1
SELENON 1 0 0 0 0 1
SERPINA1 1 0 0 0 0 1
SERPINB7 1 0 0 0 0 1
SETD1B 0 0 0 0 1 1
SETX 0 0 1 0 0 1
SF3B4 0 0 1 0 0 1
SGCA 0 0 1 0 0 1
SH3BP2 1 0 0 0 0 1
SKIC2 0 1 0 0 0 1
SLC12A6 0 0 1 0 0 1
SLC13A5 0 1 0 0 0 1
SLC19A3 0 1 0 0 0 1
SLC20A2 1 0 0 0 0 1
SLC22A5 1 0 0 0 0 1
SLC2A10 1 0 0 0 0 1
SLC35A1 0 0 1 0 0 1
SLC4A1 0 0 0 0 1 1
SLC4A11 0 0 0 0 1 1
SLCO2A1 1 0 0 0 0 1
SMAD3 0 0 1 0 0 1
SMAD4 0 0 1 0 0 1
SMARCA2 0 0 0 0 1 1
SMARCD1 0 0 0 1 0 1
SMC1A 0 0 1 0 0 1
SMC3 0 0 1 0 0 1
SMCHD1 0 0 1 0 0 1
SMO 0 0 0 1 0 1
SMPD1 0 0 0 0 1 1
SNHG14, UBE3A 1 0 0 0 0 1
SOS1 1 0 0 0 0 1
SOS2 0 0 1 0 0 1
SPEN 0 0 0 1 0 1
SPR 1 0 0 0 0 1
SPTAN1 0 0 1 0 0 1
SPTBN5 0 0 0 0 1 1
SPTLC2 0 1 0 0 0 1
SRCAP 0 0 1 0 0 1
SRD5A2 0 0 0 0 1 1
SRD5A3 0 1 0 0 0 1
STUB1 0 1 0 0 0 1
SURF1 1 0 0 0 0 1
TAF1C 0 0 0 0 1 1
TAF2 0 0 0 0 1 1
TBC1D1 0 0 1 0 0 1
TBC1D32 1 0 0 0 0 1
TBX20 0 0 1 0 0 1
TBX5 0 0 1 0 0 1
TEK 0 0 1 0 0 1
TELO2 0 0 1 0 0 1
TENT5A 0 0 0 0 1 1
TGM5 1 0 0 0 0 1
THBS2 0 0 1 0 0 1
THSD4 0 0 1 0 0 1
TLK2 0 0 1 0 0 1
TMEM43 0 0 1 0 0 1
TNNI3 0 0 1 0 0 1
TNXB 0 0 1 0 0 1
TRNT1 0 1 0 0 0 1
TRPV1 0 0 1 0 0 1
TRRAP 0 0 1 0 0 1
TTI2 0 0 0 0 1 1
TYR 1 0 0 0 0 1
UBQLN2 0 0 0 0 1 1
UCHL1 0 0 0 0 1 1
UGP2 0 0 0 0 1 1
UROD 1 0 0 0 0 1
VAMP2 0 1 0 0 0 1
VCP 0 0 1 0 0 1
VPS13B 0 0 0 1 0 1
VPS35 0 0 0 0 1 1
VPS35L 0 0 0 1 0 1
VPS53 0 0 0 0 1 1
WARS2 0 1 0 0 0 1
WASHC5 0 0 1 0 0 1
WFS1 0 0 0 0 1 1
WNT1 0 0 1 0 0 1
WNT10A 0 1 0 0 0 1
WNT5A 0 0 1 0 0 1
WRAP53 0 0 1 0 0 1
XIAP 1 0 0 0 0 1
XRCC1 0 0 1 0 0 1
YARS2 0 0 1 0 0 1
ZFYVE26 0 1 0 0 0 1
ZMPSTE24 0 0 1 0 0 1
ZMYM3 0 0 1 0 0 1
ZNF292 0 0 1 0 0 1
ZNF469 0 0 1 0 0 1

Condition and significance breakdown #

Total conditions: 632
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Primary dilated cardiomyopathy 9 14 16 1 0 40
Autosomal dominant polycystic kidney disease 21 6 9 1 0 37
Hypertrophic cardiomyopathy 5 8 22 2 0 37
Hereditary hemorrhagic telangiectasia 11 7 5 0 0 23
Malignant hyperthermia, susceptibility to, 1 5 1 15 2 0 23
Alport syndrome 8 7 4 0 0 19
Familial thoracic aortic aneurysm and aortic dissection 4 1 8 2 0 15
RYR1-related myopathy 1 0 10 0 0 11
Complex neurodevelopmental disorder 1 2 6 0 1 10
Hereditary spastic paraplegia 4 4 5 1 0 0 10
Severe early-childhood-onset retinal dystrophy 6 3 1 0 0 10
TTN-related myopathy 0 0 0 7 3 10
Autosomal recessive Alport syndrome 1 2 4 0 2 9
Telangiectasia, hereditary hemorrhagic, type 1 4 1 3 1 0 9
Charcot-Marie-Tooth disease 0 1 6 0 1 8
Congenital myotonia, autosomal recessive form 6 0 2 0 0 8
Osteogenesis imperfecta 4 1 2 0 1 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma 2 2 1 2 0 7
Arrhythmogenic right ventricular cardiomyopathy 3 0 4 0 0 7
Capillary malformation-arteriovenous malformation 2 2 3 2 0 0 7
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 2 3 2 0 0 7
Hypercholesterolemia, familial, 1 4 1 1 0 1 7
Syndromic intellectual disability 0 2 4 0 1 7
Amyotrophic lateral sclerosis 1 1 4 0 0 6
Autosomal recessive limb-girdle muscular dystrophy 4 0 1 1 0 6
Charlevoix-Saguenay spastic ataxia 0 1 4 1 0 6
Ehlers-Danlos syndrome, classic type 1 0 4 0 1 6
Long QT syndrome 5 0 1 0 0 6
Marfan syndrome 1 2 0 2 1 6
Neurodevelopmental disorder 0 0 4 1 1 6
Nonsyndromic genetic hearing loss 3 0 2 1 0 6
Parkinson disease 1 1 2 0 2 6
Polycystic kidney disease, adult type 1 1 4 0 0 6
Telangiectasia, hereditary hemorrhagic, type 2 4 1 1 0 0 6
X-linked Alport syndrome 0 4 2 0 0 6
Glycogen storage disease, type V 5 0 0 0 0 5
Hereditary spastic paraplegia 7 3 0 1 0 1 5
Primary ciliary dyskinesia 2 2 1 0 0 5
Alstrom syndrome 1 0 0 0 3 4
Autosomal dominant Alport syndrome 1 2 1 0 0 4
Autosomal dominant medullary cystic kidney disease with or without hyperuricemia 2 1 1 0 0 4
Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome 0 0 4 0 0 4
Autosomal recessive limb-girdle muscular dystrophy type 2J 0 1 1 2 0 4
Cardiomyopathy 0 0 1 2 1 4
Cerebellar ataxia 0 0 3 0 1 4
Ciliopathy 3 1 0 0 0 4
Epidermolysis bullosa simplex 2 0 2 0 0 4
Familial hypocalciuric hypercalcemia 1 0 2 2 0 0 4
Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 0 0 4 0 0 4
Galactosylceramide beta-galactosidase deficiency 0 1 2 0 1 4
Hereditary spastic paraplegia 0 1 2 1 0 4
Hypertrophic cardiomyopathy 4 3 0 1 0 0 4
Intrinsic cardiomyopathy 0 2 1 1 0 4
Maturity-onset diabetes of the young 1 2 1 0 0 4
Alzheimer disease 3 2 1 0 0 0 3
Amyotrophic lateral sclerosis type 1 1 2 0 0 0 3
Ataxia-telangiectasia syndrome 3 0 0 0 0 3
Autosomal dominant cerebellar ataxia 0 0 3 0 0 3
Autosomal recessive bestrophinopathy 2 0 1 0 0 3
Autosomal recessive juvenile Parkinson disease 2 2 0 0 1 0 3
Autosomal recessive limb-girdle muscular dystrophy type 2A 2 0 1 0 0 3
Autosomal recessive nonsyndromic hearing loss 9 2 0 1 0 0 3
Autosomal recessive spinocerebellar ataxia 17 0 0 2 0 1 3
Brugada syndrome 0 1 2 0 0 3
Carnitine palmitoyl transferase II deficiency, myopathic form 3 0 0 0 0 3
Catecholaminergic polymorphic ventricular tachycardia 1 0 2 0 0 3
Cerebellar ataxia-hypogonadism syndrome 0 0 3 0 0 3
Charcot-Marie-Tooth disease X-linked dominant 1 1 2 0 0 0 3
Collagen 6-related myopathy 0 0 3 0 0 3
Deficiency of alpha-mannosidase 1 1 0 0 1 3
EPHB4-associated vascular malformation spectrum 1 1 1 0 0 3
Epidermolysis bullosa dystrophica 1 2 0 0 0 3
Familial X-linked hypophosphatemic vitamin D refractory rickets 2 0 1 0 0 3
Familial hypercholesterolemia 1 1 0 0 1 3
Familial hypokalemia-hypomagnesemia 3 0 0 0 0 3
Familial isolated arrhythmogenic right ventricular dysplasia 1 0 1 0 1 3
Focal segmental glomerulosclerosis 0 0 3 0 0 3
Hereditary spastic paraplegia 30 0 0 3 0 0 3
Intellectual disability 0 0 3 0 0 3
Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism 1 0 2 0 0 3
Malignant hyperthermia of anesthesia 2 0 1 0 0 3
Maturity-onset diabetes of the young type 1 1 0 2 0 0 3
Maturity-onset diabetes of the young type 3 0 1 1 0 1 3
Nephrotic syndrome 0 0 2 0 1 3
Neurofibromatosis, type 1 1 1 1 0 0 3
Niemann-Pick disease, type C1 0 0 2 0 1 3
Osteogenesis imperfecta type I 2 1 0 0 0 3
Partial androgen insensitivity syndrome 0 0 0 0 3 3
Progressive muscular dystrophy 0 0 3 0 0 3
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 1 0 1 1 0 3
Usher syndrome type 2 0 0 3 0 0 3
Wilson disease 2 0 0 0 1 3
Xeroderma pigmentosum, group D 2 0 1 0 0 3
2-aminoadipic 2-oxoadipic aciduria 1 1 0 0 0 2
ALS2-related motor neuron disease 0 1 1 0 0 2
Acute intermittent porphyria 1 1 0 0 0 2
Alkuraya-Kucinskas syndrome 0 0 2 0 0 2
Amyotrophic lateral sclerosis type 12 0 1 0 0 1 2
Aortic aneurysm, familial thoracic 7 0 0 2 0 0 2
Aortic valve disease 3 0 0 2 0 0 2
Atrial conduction disease 0 0 2 0 0 2
Autosomal dominant Parkinson disease 1 0 1 1 0 0 2
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome 0 0 2 0 0 2
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome 0 1 1 0 0 2
Autosomal dominant mitochondrial myopathy with exercise intolerance 0 0 1 1 0 2
Autosomal dominant slowed nerve conduction velocity 0 0 1 1 0 2
Autosomal recessive ataxia due to ubiquinone deficiency 1 1 0 0 0 2
Autosomal recessive polycystic kidney disease 1 0 0 1 0 2
Autosomal recessive spinocerebellar ataxia 15 0 0 1 0 1 2
Bardet-Biedl syndrome 1 1 0 1 0 0 2
Beck-Fahrner syndrome 0 0 2 0 0 2
Bethlem myopathy 1A 0 0 2 0 0 2
Brain small vessel disease 1 with or without ocular anomalies 0 1 1 0 0 2
Charcot-Marie-Tooth disease type 4B3 0 0 2 0 0 2
Citrullinemia type I 0 1 1 0 0 2
Congenital anomaly of kidney and urinary tract 0 0 2 0 0 2
Congenital contractural arachnodactyly 0 0 1 1 0 2
Cranioectodermal dysplasia 4 0 1 1 0 0 2
Cystic fibrosis 2 0 0 0 0 2
Developmental and epileptic encephalopathy 0 0 2 0 0 2
Dilated cardiomyopathy 1G 2 0 0 0 0 2
Dyskeratosis congenita 0 0 2 0 0 2
Ehlers-Danlos syndrome, dermatosparaxis type 0 0 1 0 1 2
Epidermolysis bullosa simplex, Ogna type 1 0 1 0 0 2
Familial Mediterranean fever 1 0 1 0 0 2
Familial cancer of breast 0 1 1 0 0 2
Familial renal hypouricemia 0 1 1 0 0 2
Frontotemporal dementia 1 0 1 0 0 2
Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 0 1 1 0 0 2
GNE myopathy 1 0 1 0 0 2
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions 2 0 0 0 0 2
Generalized dominant dystrophic epidermolysis bullosa 0 2 0 0 0 2
Glucocorticoid deficiency with achalasia 0 0 2 0 0 2
Glutamate formiminotransferase deficiency 1 0 1 0 0 2
Hearing loss, autosomal dominant 80 0 0 2 0 0 2
Hematuria, benign familial, 1 0 1 1 0 0 2
Hereditary cerebellar ataxia 0 0 2 0 0 2
Hereditary disorder of connective tissue 0 0 2 0 0 2
Hereditary spastic paraplegia 11 1 1 0 0 0 2
Hereditary spastic paraplegia 39 0 1 1 0 0 2
Hypercalcemia, infantile, 1 2 0 0 0 0 2
Hypomyelinating leukodystrophy 11 0 1 1 0 0 2
Inherited primary ovarian failure 0 1 1 0 0 2
Joubert syndrome 14 1 1 0 0 0 2
KIF1A related neurological disorder 0 0 0 0 2 2
Kindler syndrome 2 0 0 0 0 2
LZTR1-related schwannomatosis 0 1 1 0 0 2
Loeys-Dietz syndrome 0 2 0 0 0 2
Long QT syndrome 2 0 0 2 0 0 2
MME-related autosomal dominant Charcot Marie Tooth disease type 2 0 0 2 0 0 2
Malignant hyperthermia, susceptibility to, 5 0 0 1 0 1 2
Mast syndrome 0 0 2 0 0 2
Maturity-onset diabetes of the young type 2 2 0 0 0 0 2
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 2 0 0 0 0 2
Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis 0 0 2 0 0 2
Mirror movements 1 1 0 0 1 0 2
Monogenic diabetes 1 1 0 0 0 2
Multiple acyl-CoA dehydrogenase deficiency 0 0 1 0 1 2
Multiple self-healing squamous epithelioma 0 1 0 1 0 2
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 0 1 1 0 0 2
Myofibrillar myopathy 5 0 0 2 0 0 2
Nephrotic syndrome, type 20 0 0 1 1 0 2
Neurodegeneration 0 1 1 0 0 2
Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset 0 0 2 0 0 2
Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities 0 0 0 0 2 2
Non-syndromic intellectual disability 0 0 2 0 0 2
Noonan syndrome 1 0 1 0 0 2
Phenylketonuria 1 0 0 0 1 2
Polycystic kidney disease 0 0 2 0 0 2
Polycystic kidney disease 4 1 1 0 0 0 2
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 1 0 0 0 1 2
Rajab interstitial lung disease with brain calcifications 2 0 1 1 0 0 2
Retinitis pigmentosa 88 0 1 1 0 0 2
Severe combined immunodeficiency due to CARMIL2 deficiency 0 1 1 0 0 2
Short-rib thoracic dysplasia 6 with or without polydactyly 0 1 0 1 0 2
Smith-Lemli-Opitz syndrome 2 0 0 0 0 2
Smith-Magenis syndrome 0 0 0 1 1 2
Spastic ataxia 2 0 0 2 0 0 2
Spinocerebellar ataxia 48 0 1 1 0 0 2
Spinocerebellar ataxia type 42 0 0 2 0 0 2
Spinocerebellar ataxia type 5 0 1 1 0 0 2
Steroid-resistant nephrotic syndrome 1 0 1 0 0 2
Stickler syndrome type 1 0 1 1 0 0 2
Thyroid dyshormonogenesis 6 0 0 1 1 0 2
Type 2 diabetes mellitus 0 0 2 0 0 2
Ullrich congenital muscular dystrophy 1A 0 0 2 0 0 2
Woodhouse-Sakati syndrome 0 0 0 0 2 2
3-Methylglutaconic aciduria type 3 0 0 1 0 0 1
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency 0 0 0 0 1 1
3-methylcrotonyl-CoA carboxylase 1 deficiency 0 1 0 0 0 1
3MC syndrome 1 0 0 0 0 1
ATP1A3-associated neurological disorder 0 1 0 0 0 1
Acral peeling skin syndrome 1 0 0 0 0 1
Acrocallosal syndrome 0 1 0 0 0 1
Adult polyglucosan body disease 0 0 1 0 0 1
Al-Raqad syndrome 0 0 0 0 1 1
Alanine glyoxylate aminotransferase deficiency 1 0 0 0 0 1
Alexander disease 0 1 0 0 0 1
Alpha-1-antitrypsin deficiency 1 0 0 0 0 1
Alpha-actinopathy 0 0 1 0 0 1
Amyotrophic lateral sclerosis type 15 0 0 0 0 1 1
Amyotrophic lateral sclerosis type 23 0 0 0 0 1 1
Amyotrophic lateral sclerosis type 4 0 0 1 0 0 1
Amyotrophic lateral sclerosis type 6 0 0 1 0 0 1
Anemia, nonspherocytic hemolytic, due to G6PD deficiency 1 0 0 0 0 1
Angelman syndrome 1 0 0 0 0 1
Anterior segment dysgenesis 7 0 0 1 0 0 1
Aortic aneurysm, familial thoracic 6 0 0 1 0 0 1
Aortic valve disease 1 0 0 1 0 0 1
Argininosuccinate lyase deficiency 0 1 0 0 0 1
Arrhythmogenic right ventricular dysplasia 12 0 0 1 0 0 1
Arrhythmogenic right ventricular dysplasia 5 0 0 1 0 0 1
Arterial tortuosity syndrome 1 0 0 0 0 1
Arthrogryposis multiplex congenita 3, myogenic type 0 0 0 0 1 1
Asphyxiating thoracic dystrophy 3 0 0 0 0 1 1
Atrial septal defect 3 0 0 0 1 0 1
Atrial septal defect 6 0 0 1 0 0 1
Autosomal dominant Charcot-Marie-Tooth disease type 2W 0 0 1 0 0 1
Autosomal dominant Robinow syndrome 0 0 1 0 0 1
Autosomal dominant cerebellar ataxia, deafness and narcolepsy 0 0 1 0 0 1
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures 0 0 1 0 0 1
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures 0 0 1 0 0 1
Autosomal dominant hypocalcemia 1 0 0 0 0 1
Autosomal dominant nonsyndromic hearing loss 0 0 1 0 0 1
Autosomal dominant nonsyndromic hearing loss 11 0 0 1 0 0 1
Autosomal recessive ataxia, Beauce type 0 1 0 0 0 1
Autosomal recessive congenital ichthyosis 6 1 0 0 0 0 1
Autosomal recessive congenital ichthyosis 9 0 0 1 0 0 1
Autosomal recessive early-onset Parkinson disease 6 0 0 1 0 0 1
Autosomal recessive inherited pseudoxanthoma elasticum 0 0 0 0 1 1
Autosomal recessive limb-girdle muscular dystrophy type 2B 0 0 1 0 0 1
Autosomal recessive limb-girdle muscular dystrophy type 2D 0 0 1 0 0 1
Autosomal recessive limb-girdle muscular dystrophy type 2L 1 0 0 0 0 1
Autosomal recessive limb-girdle muscular dystrophy type 2Q 0 0 1 0 0 1
Autosomal recessive nonsyndromic hearing loss 1A 1 0 0 0 0 1
Autosomal recessive nonsyndromic hearing loss 29 0 0 1 0 0 1
Autosomal recessive progressive external ophthalmoplegia 0 0 0 0 1 1
Autosomal semi-dominant severe lipodystrophic laminopathy 0 0 1 0 0 1
Baraitser-Winter syndrome 1 0 0 0 0 1 1
Baraitser-winter syndrome 2 0 1 0 0 0 1
Bardet-Biedl syndrome 0 1 0 0 0 1
Bartter disease type 2 0 0 0 0 1 1
Basal ganglia calcification, idiopathic, 4 0 0 1 0 0 1
Basal ganglia calcification, idiopathic, 5 1 0 0 0 0 1
Beta-D-mannosidosis 0 0 0 0 1 1
Bietti crystalline corneoretinal dystrophy 0 0 0 0 1 1
Biotin-responsive basal ganglia disease 0 1 0 0 0 1
Biotinidase deficiency 0 0 0 0 1 1
Blau syndrome 0 0 1 0 0 1
Bone Paget disease 0 1 0 0 0 1
Bone fragility with contractures, arterial rupture, and deafness 0 0 1 0 0 1
Brachydactyly 0 0 1 0 0 1
Brachydactyly type A1 0 0 1 0 0 1
Brachydactyly type B1 0 0 1 0 0 1
Breast neoplasm 0 0 0 0 1 1
Brittle cornea syndrome 1 0 0 1 0 0 1
Brody myopathy 0 0 1 0 0 1
COACH syndrome 1 0 0 0 0 1 1
COG4-congenital disorder of glycosylation 0 1 0 0 0 1
COG7 congenital disorder of glycosylation 0 0 0 0 1 1
CPOX-related hereditary coproporphyria 0 1 0 0 0 1
Capillary malformation-arteriovenous malformation 1 0 0 1 0 0 1
Cardiomyopathy, familial hypertrophic, 28 0 0 0 0 1 1
Carey-Fineman-Ziter syndrome 1 1 0 0 0 0 1
Cataract 14 multiple types 0 1 0 0 0 1
Catecholaminergic polymorphic ventricular tachycardia 1 0 0 1 0 0 1
Caveolinopathy 0 0 0 1 0 1
Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease 0 0 0 0 1 1
Centronuclear myopathy 1 0 0 0 0 1
Cerebellar atrophy, developmental delay, and seizures 0 1 0 0 0 1
Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 0 0 1 0 0 1
Cerebral cavernous malformation 1 0 0 0 0 1
Cerebral cavernous malformation 1 0 1 0 0 0 1
Charcot-Marie-Tooth disease axonal type 2N 0 0 1 0 0 1
Charcot-Marie-Tooth disease axonal type 2O 0 0 1 0 0 1
Charcot-Marie-Tooth disease dominant intermediate D 0 0 1 0 0 1
Charcot-Marie-Tooth disease dominant intermediate E 0 0 1 0 0 1
Charcot-Marie-Tooth disease type 2 0 0 1 0 0 1
Charcot-Marie-Tooth disease type 2D 0 0 1 0 0 1
Charcot-Marie-Tooth disease type 2T 1 0 0 0 0 1
Charcot-Marie-Tooth disease type 4A 0 0 1 0 0 1
Charcot-Marie-Tooth disease type 4J 0 0 1 0 0 1
Charcot-Marie-tooth disease, axonal, type 2DD 1 0 0 0 0 1
Child syndrome 0 0 1 0 0 1
Chronic pancreatitis 0 0 1 0 0 1
Chylomicron retention disease 0 0 0 0 1 1
Chédiak-Higashi syndrome 0 0 0 0 1 1
Cockayne syndrome type 2 1 0 0 0 0 1
Coenzyme Q10 deficiency 0 0 0 0 1 1
Coffin-Siris syndrome 11 0 0 0 1 0 1
Coffin-Siris syndrome 7 0 0 1 0 0 1
Cohen syndrome 0 0 0 1 0 1
Combined deficiency of sialidase AND beta galactosidase 0 0 0 0 1 1
Combined immunodeficiency due to MALT1 deficiency 0 0 1 0 0 1
Combined oxidative phosphorylation defect type 17 0 0 0 0 1 1
Complement 3 glomerulopathy 0 0 0 0 1 1
Complex neurodevelopmental disorder with or without congenital anomalies 1 0 0 0 0 1
Cone-rod dystrophy 13 0 0 0 0 1 1
Cone-rod dystrophy 15 1 0 0 0 0 1
Cone-rod dystrophy 6 0 0 0 0 1 1
Congenital bilateral absence of vas deferens 1 0 0 0 0 1
Congenital disorder of glycosylation, type 2v 0 0 0 0 1 1
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder 0 1 0 0 0 1
Congenital hypothalamic hamartoma syndrome 0 0 0 1 0 1
Congenital long QT syndrome 0 0 1 0 0 1
Congenital multicore myopathy with external ophthalmoplegia 1 0 0 0 0 1
Congenital muscular hypertrophy-cerebral syndrome 0 0 1 0 0 1
Congenital myasthenic syndrome 12 0 0 0 0 1 1
Congenital myasthenic syndrome 5 1 0 0 0 0 1
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome 0 1 0 0 0 1
Contractures, pterygia, and variable skeletal fusions syndrome 1B 0 0 0 0 1 1
Corneal dystrophy-perceptive deafness syndrome 0 0 0 0 1 1
Cornelia de Lange syndrome 1 0 0 0 1 0 1
Cutis laxa, autosomal dominant 1 0 1 0 0 0 1
DNA ligase IV deficiency 1 0 0 0 0 1
Danon disease 0 0 0 1 0 1
De Lange syndrome 0 0 1 0 0 1
Decreased HDL cholesterol concentration 0 1 0 0 0 1
Deficiency of 2-methylbutyryl-CoA dehydrogenase 0 0 0 0 1 1
Deficiency of acetyl-CoA acetyltransferase 0 0 0 0 1 1
Dent disease type 1 0 0 1 0 0 1
Desmin-related myofibrillar myopathy 0 0 0 0 1 1
Developmental and epileptic encephalopathy, 11 0 0 1 0 0 1
Developmental and epileptic encephalopathy, 25 0 1 0 0 0 1
Developmental and epileptic encephalopathy, 46 0 0 0 1 0 1
Developmental and epileptic encephalopathy, 7 1 0 0 0 0 1
Developmental and epileptic encephalopathy, 83 0 0 0 0 1 1
Developmental delay with autism spectrum disorder and gait instability 0 0 0 1 0 1
Developmental delay with or without dysmorphic facies and autism 0 0 1 0 0 1
Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy 0 0 1 0 0 1
Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures 0 0 0 1 0 1
Developmental malformations-deafness-dystonia syndrome 1 0 0 0 0 1
Diabetes mellitus 0 0 1 0 0 1
Dihydropyrimidinase deficiency 0 1 0 0 0 1
Dihydropyrimidine dehydrogenase deficiency 1 0 0 0 0 1
Disorder of cardiovascular system 0 1 0 0 0 1
Distal hereditary motor neuropathy type 2 1 0 0 0 0 1
Distal myopathy with posterior leg and anterior hand involvement 0 0 1 0 0 1
Distal renal tubular acidosis 0 0 0 0 1 1
Distal spinal muscular atrophy 0 0 1 0 0 1
Dopa-responsive dystonia due to sepiapterin reductase deficiency 1 0 0 0 0 1
Dyskeratosis congenita, autosomal dominant 2 0 0 0 0 1 1
Dyskinesia with orofacial involvement, autosomal dominant 0 0 1 0 0 1
Dystonia 28, childhood-onset 0 0 0 0 1 1
Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome 0 0 0 0 1 1
Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type 0 0 0 1 0 1
Ehlers-Danlos syndrome 0 0 1 0 0 1
Ehlers-Danlos syndrome due to tenascin-X deficiency 0 0 1 0 0 1
Ehlers-Danlos syndrome, classic type, 1 0 0 1 0 0 1
Ehlers-Danlos syndrome, dominant type 4 0 0 1 0 0 1
Ehlers-Danlos/osteogenesis imperfecta syndrome 0 0 0 1 0 1
Emery-Dreifuss muscular dystrophy 4, autosomal dominant 0 0 0 0 1 1
Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 0 0 0 0 1 1
Episodic kinesigenic dyskinesia 1 0 0 1 0 0 1
Erythrokeratodermia variabilis et progressiva 2 0 0 1 0 0 1
Exostoses, multiple, type 2 1 0 0 0 0 1
Exudative vitreoretinopathy 4 0 0 0 0 1 1
FG syndrome 0 0 0 0 1 1
Fabry disease 0 0 1 0 0 1
Facioscapulohumeral muscular dystrophy 2 0 0 1 0 0 1
Familial adenomatous polyposis 2 1 0 0 0 0 1
Familial cylindromatosis 1 0 0 0 0 1
Familial hemiplegic migraine 0 0 1 0 0 1
Familial medullary thyroid carcinoma 0 0 1 0 0 1
Familial partial lipodystrophy, Dunnigan type 0 0 1 0 0 1
Familial porphyria cutanea tarda 1 0 0 0 0 1
Familial visceral amyloidosis, Ostertag type 1 0 0 0 0 1
Fanconi anemia complementation group G 0 0 0 0 1 1
Fibrochondrogenesis 1 0 0 0 0 1 1
Fibrous dysplasia of jaw 1 0 0 0 0 1
Focal segmental glomerulosclerosis 3, susceptibility to 0 0 1 0 0 1
Focal segmental glomerulosclerosis 5 0 0 1 0 0 1
Focal segmental glomerulosclerosis 7 1 0 0 0 0 1
Frontotemporal dementia and/or amyotrophic lateral sclerosis 0 0 1 0 0 1
Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 0 0 1 0 0 1
G6PD deficiency 1 0 0 0 0 1
Gaucher disease 1 0 0 0 0 1
Gaucher disease due to saposin C deficiency 1 0 0 0 0 1
Geleophysic dysplasia 0 0 1 0 0 1
Generalized epilepsy with febrile seizures plus, type 2 0 0 1 0 0 1
Gerstmann-Straussler-Scheinker syndrome 0 1 0 0 0 1
Gillespie syndrome 0 0 1 0 0 1
Glomuvenous malformation 1 0 0 0 0 1
Glutaric aciduria, type 1 0 0 0 0 1 1
Glycogen storage disease 1 0 0 0 0 1
Glycogen storage disease due to acid maltase deficiency, late-onset 1 0 0 0 0 1
Glycogen storage disease, type II 0 0 1 0 0 1
Glycogen storage disease, type IV 0 1 0 0 0 1
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1 1 0 0 0 0 1
Harel-Yoon syndrome 0 0 0 0 1 1
Hearing loss, autosomal recessive 1 0 0 0 0 1
Hemochromatosis type 1 1 0 0 0 0 1
Hemochromatosis type 2A 1 0 0 0 0 1
Hereditary breast ovarian cancer syndrome 1 0 0 0 0 1
Hereditary cancer-predisposing syndrome 0 1 0 0 0 1
Hereditary cavernous hemangioma of brain 1 0 0 0 0 1
Hereditary cerebral hemorrhage with amyloidosis 0 0 1 0 0 1
Hereditary peripheral neuropathy 0 0 1 0 0 1
Hereditary predisposition to infections 0 1 0 0 0 1
Hereditary spastic paraplegia 15 0 1 0 0 0 1
Hereditary spastic paraplegia 3A 1 0 0 0 0 1
Hereditary spastic paraplegia 54 0 1 0 0 0 1
Hereditary spastic paraplegia 5A 1 0 0 0 0 1
Hereditary spastic paraplegia 77 0 1 0 0 0 1
Hereditary spastic paraplegia 8 0 0 1 0 0 1
Hermansky-Pudlak syndrome 5 0 0 0 0 1 1
Holt-Oram syndrome 0 0 1 0 0 1
Homocystinuria due to methylene tetrahydrofolate reductase deficiency 0 1 0 0 0 1
Hydrocephalus, nonsyndromic, autosomal recessive 2 1 0 0 0 0 1
Hypercalcemia 0 0 1 0 0 1
Hypercholesterolemia, autosomal dominant, type B 1 0 0 0 0 1
Hypercholesterolemia, familial, 4 0 0 1 0 0 1
Hyperekplexia 1 0 0 0 0 1 1
Hyperinsulinemic hypoglycemia 0 0 0 0 1 1
Hyperinsulinemic hypoglycemia, familial, 3 0 1 0 0 0 1
Hyperkalemic periodic paralysis 0 0 1 0 0 1
Hyperphosphatasia-intellectual disability syndrome 0 1 0 0 0 1
Hyperthyroxinemia, familial dysalbuminemic 0 1 0 0 0 1
Hypertrophic cardiomyopathy 26 0 0 1 0 0 1
Hypodontia 0 0 1 0 0 1
Hypogonadism 0 0 1 0 0 1
Hypogonadism with anosmia 0 0 1 0 0 1
Hypophosphatemic rickets 0 0 1 0 0 1
Hypotrichosis 7 1 0 0 0 0 1
Idiopathic basal ganglia calcification 1 1 0 0 0 0 1
Immunodeficiency 23 0 0 1 0 0 1
Immunodeficiency 32B 0 0 0 1 0 1
Immunodeficiency 95 0 0 0 1 0 1
Immunoglobulin-mediated membranoproliferative glomerulonephritis 0 0 0 1 0 1
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia 0 0 1 0 0 1
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 0 0 1 0 0 1
Inflammatory skin and bowel disease, neonatal, 1 0 0 1 0 0 1
Inherited focal segmental glomerulosclerosis 1 0 0 0 0 1
Intellectual developmental disorder with autism and macrocephaly 0 0 1 0 0 1
Intellectual developmental disorder with seizures and language delay 0 0 0 0 1 1
Intellectual developmental disorder, autosomal dominant 63, with macrocephaly 0 0 0 0 1 1
Intellectual disability, X-linked syndromic, Turner type 0 0 1 0 0 1
Intellectual disability, autosomal dominant 50 0 0 1 0 0 1
Intellectual disability, autosomal dominant 52 0 0 0 0 1 1
Intellectual disability, autosomal dominant 57 0 0 1 0 0 1
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome 0 0 1 0 0 1
Intellectual disability-severe speech delay-mild dysmorphism syndrome 1 0 0 0 0 1
Joubert syndrome 28 0 0 1 0 0 1
Joubert syndrome 3 0 0 0 0 1 1
Joubert syndrome 5 1 0 0 0 0 1
Junctional epidermolysis bullosa 0 0 0 1 0 1
Junctional epidermolysis bullosa with pyloric atresia 0 0 0 1 0 1
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 0 0 1 0 0 1
Juvenile retinoschisis 0 1 0 0 0 1
KBG syndrome 0 0 1 0 0 1
KINSSHIP syndrome 0 0 0 0 1 1
Karyomegalic interstitial nephritis 1 0 0 0 0 1
Keratosis follicularis 0 0 1 0 0 1
Kleefstra syndrome 1 0 0 1 0 0 1
Kleefstra syndrome 2 0 0 1 0 0 1
LRP5-related primary osteoporosis 0 1 0 0 0 1
Left ventricular noncompaction 0 0 1 0 0 1
Leigh syndrome 1 0 0 0 0 1
Lethal osteosclerotic bone dysplasia 0 0 0 1 0 1
Leukoencephalopathy, diffuse hereditary, with spheroids 1 0 1 0 0 0 1
Liddle syndrome 1 0 0 0 1 0 1
Limb-girdle muscular dystrophy 0 0 1 0 0 1
Loeys-Dietz syndrome 2 0 0 0 1 0 1
Long QT syndrome 1 0 0 1 0 0 1
Long QT syndrome 3 0 0 1 0 0 1
Loricrin keratoderma 0 0 0 1 0 1
Lymphangiomyomatosis 0 0 0 0 1 1
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss 0 0 1 0 0 1
Mandibuloacral dysplasia with type B lipodystrophy 0 0 1 0 0 1
Maturity-onset diabetes of the young type 10 0 0 1 0 0 1
Maturity-onset diabetes of the young type 11 0 0 0 0 1 1
Maturity-onset diabetes of the young type 14 0 0 0 1 0 1
Maturity-onset diabetes of the young type 4 0 0 1 0 0 1
Metabolic myopathy 0 0 0 0 1 1
Metachromatic leukodystrophy, juvenile type 1 0 0 0 0 1
Microcephaly-thin corpus callosum-intellectual disability syndrome 0 0 0 0 1 1
Mild hyperphenylalaninemia 1 0 0 0 0 1
Mitochondrial DNA depletion syndrome 1 0 0 0 0 1 1
Mitochondrial DNA depletion syndrome 14B (cardioencephalomyopathic type) 0 0 0 0 1 1
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) 0 0 0 0 1 1
Mitochondrial complex I deficiency, nuclear type 25 0 1 0 0 0 1
Mitochondrial disease 1 0 0 0 0 1
Miyoshi muscular dystrophy 3 0 1 0 0 0 1
Mucopolysaccharidosis type 6 0 1 0 0 0 1
Multiple congenital anomalies-hypotonia-seizures syndrome 1 0 1 0 0 0 1
Multiple cutaneous and mucosal venous malformations 0 0 1 0 0 1
Multiple epiphyseal dysplasia type 1 0 1 0 0 0 1
Multiple mitochondrial dysfunctions syndrome 3 0 0 1 0 0 1
Muscular channelopathy 0 1 0 0 0 1
Muscular dystrophy, limb-girdle, autosomal recessive 23 0 0 0 1 0 1
Muscular dystrophy, limb-girdle, autosomal recessive 27 0 0 1 0 0 1
Muscular dystrophy-dystroglycanopathy 0 0 0 0 1 1
Myoclonic dystonia 11 0 0 1 0 0 1
Myoclonic dystonia 26 0 0 1 0 0 1
Myoclonus, intractable, neonatal 0 1 0 0 0 1
Myoclonus-dystonia syndrome 0 0 1 0 0 1
Myofibrillar myopathy 0 0 1 0 0 1
Myofibrillar myopathy 4 0 1 0 0 0 1
Myopathy caused by variation in FKRP 1 0 0 0 0 1
Myopathy, lactic acidosis, and sideroblastic anemia 2 0 0 1 0 0 1
Myopia, high, with cataract and vitreoretinal degeneration 0 0 0 0 1 1
Nager syndrome 0 0 1 0 0 1
Nemaline myopathy 0 0 0 0 1 1
Nemaline myopathy 10 0 0 0 0 1 1
Nemaline myopathy 6 0 0 1 0 0 1
Nephrotic syndrome, type 3 0 0 1 0 0 1
Neurodegeneration with brain iron accumulation 5 0 0 0 1 0 1
Neurodegeneration with brain iron accumulation 6 1 0 0 0 0 1
Neurodevelopmental disorder with dysmorphic facies and variable seizures 0 0 0 0 1 1
Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements 0 1 0 0 0 1
Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures 0 0 0 0 1 1
Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures 0 1 0 0 0 1
Neurofibromatosis, type 2 0 0 1 0 0 1
Neuromuscular disease caused by qualitative or quantitative defects of alpha-dystroglycan 0 0 1 0 0 1
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin 0 0 1 0 0 1
Neuronopathy, distal hereditary motor, type 2B 0 1 0 0 0 1
Neuronopathy, distal hereditary motor, type 2D 0 0 0 0 1 1
Neuronopathy, distal hereditary motor, type 5C 0 0 1 0 0 1
Neuropathy, hereditary sensory and autonomic, type 1C 0 1 0 0 0 1
Nicolaides-Baraitser syndrome 0 0 0 0 1 1
Niemann-Pick disease, type B 0 0 0 0 1 1
Noonan syndrome 9 0 0 1 0 0 1
O'Donnell-Luria-Rodan syndrome 0 0 1 0 0 1
Oculocutaneous albinism type 1 1 0 0 0 0 1
Odonto-onycho-dermal dysplasia 0 1 0 0 0 1
Osteogenesis imperfecta, type 18 0 0 0 0 1 1
Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes 0 1 0 0 0 1
P5CS deficiency 0 0 1 0 0 1
PAX6-related ocular dysgenesis 0 1 0 0 0 1
PHARC syndrome 0 1 0 0 0 1
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome 0 1 0 0 0 1
PPARG-related familial partial lipodystrophy 0 1 0 0 0 1
PTEN hamartoma tumor syndrome 1 0 0 0 0 1
Pachydermoperiostosis syndrome 1 0 0 0 0 1
Palmoplantar keratoderma, Nagashima type 1 0 0 0 0 1
Palmoplantar keratoderma, epidermolytic 1 0 0 0 0 1
Paramyotonia congenita of Von Eulenburg 1 0 0 0 0 1
Parenti-mignot neurodevelopmental syndrome 0 0 0 1 0 1
Pericarditis 0 0 1 0 0 1
Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome 0 0 0 1 0 1
Periventricular nodular heterotopia 7 0 0 1 0 0 1
Periventricular nodular heterotopia 9 0 0 0 0 1 1
Peroxisome biogenesis disorder 0 0 0 0 1 1
Perry syndrome 0 0 1 0 0 1
Phytanic acid storage disease 0 0 0 0 1 1
Pili torti-deafness syndrome 1 0 0 0 0 1
Polycystic kidney disease 3 with or without polycystic liver disease 0 0 1 0 0 1
Polycystic kidney disease 6 with or without polycystic liver disease 0 0 0 0 1 1
Polycystic liver disease 1 1 0 0 0 0 1
Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome 0 0 0 1 0 1
Pontocerebellar hypoplasia type 2E 0 0 0 0 1 1
Porencephaly-microcephaly-bilateral congenital cataract syndrome 0 0 0 0 1 1
Primary erythromelalgia 0 0 0 0 1 1
Primary hypomagnesemia 0 1 0 0 0 1
Primary progressive aphasia 0 0 1 0 0 1
Progeroid and marfanoid aspect-lipodystrophy syndrome 0 0 1 0 0 1
Progressive sclerosing poliodystrophy 1 0 0 0 0 1
Progressive supranuclear palsy-parkinsonism syndrome 0 0 0 1 0 1
Pulmonary arterial hypertension 0 0 0 0 1 1
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 0 1 0 0 0 1
Pyridoxine-dependent epilepsy caused by ALDH7A1 mutant 1 0 0 0 0 1
Radio-Tartaglia syndrome 0 0 0 1 0 1
Recessive dystrophic epidermolysis bullosa 1 0 0 0 0 1
Recessive mitochondrial ataxia syndrome 0 0 0 0 1 1
Renal carnitine transport defect 1 0 0 0 0 1
Renal cysts and diabetes syndrome 1 0 0 0 0 1
Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta 1 0 0 0 0 1
Restrictive cardiomyopathy 1 0 0 0 0 1
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations 0 1 0 0 0 1
Retinitis pigmentosa 1 0 1 0 0 0 1
Retinitis pigmentosa 25 0 1 0 0 0 1
Retinitis pigmentosa 54 1 0 0 0 0 1
Retinitis pigmentosa 62 0 0 1 0 0 1
Rienhoff syndrome 0 0 1 0 0 1
Ritscher-Schinzel syndrome 0 0 0 1 0 1
Rubinstein-Taybi syndrome due to CREBBP mutations 0 0 1 0 0 1
SCN4A-related channelopathy 1 0 0 0 0 1
SCN4A-related myopathy, autosomal recessive 0 0 1 0 0 1
SELENON-related myopathy 1 0 0 0 0 1
SLC35A1-congenital disorder of glycosylation 0 0 1 0 0 1
SRD5A3-congenital disorder of glycosylation 0 1 0 0 0 1
Schizophrenia 6 0 0 0 0 1 1
Schwartz-Jampel syndrome type 1 0 0 1 0 0 1
Semantic dementia 0 0 1 0 0 1
Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome 0 0 0 0 1 1
Severe myoclonic epilepsy in infancy 0 0 0 1 0 1
Short QT syndrome 0 0 1 0 0 1
Sitosterolemia 1 1 0 0 0 0 1
Snowflake vitreoretinal degeneration 0 1 0 0 0 1
Spastic ataxia 1 0 0 0 0 1
Spastic paraplegia 82, autosomal recessive 0 1 0 0 0 1
Spinocerebellar ataxia 45 0 0 0 1 0 1
Spinocerebellar ataxia 47 0 0 1 0 0 1
Spinocerebellar ataxia type 13 1 0 0 0 0 1
Spinocerebellar ataxia type 28 0 0 0 1 0 1
Spinocerebellar ataxia type 37 0 0 0 0 1 1
Spinocerebellar ataxia type 6 0 0 0 0 1 1
Spinocerebellar ataxia, autosomal recessive 26 0 0 1 0 0 1
Spondylocarpotarsal synostosis syndrome 0 1 0 0 0 1
Spondyloepiphyseal dysplasia, Kimberley type 0 0 0 1 0 1
Stargardt disease 1 0 0 0 0 1
Steatocystoma multiplex 1 0 0 0 0 1
Stickler syndrome 1 0 0 0 0 1
Stickler syndrome type 2 0 0 0 0 1 1
Supravalvar aortic stenosis 0 0 1 0 0 1
Syndromic X-linked intellectual disability Claes-Jensen type 0 0 1 0 0 1
Syndromic disease 0 0 0 0 1 1
TELO2-related intellectual disability-neurodevelopmental disorder 0 0 1 0 0 1
Tangier disease 0 0 0 1 0 1
Tay-Sachs disease 0 0 0 0 1 1
Testicular anomalies with or without congenital heart disease 0 0 0 1 0 1
Testicular atrophy 0 0 1 0 0 1
Thyroid hormone resistance, generalized, autosomal dominant 1 0 0 0 0 1
Timothy syndrome 0 0 1 0 0 1
Trichohepatoenteric syndrome 2 0 1 0 0 0 1
Tuberous sclerosis 1 0 0 0 0 1 1
Tuberous sclerosis 2 0 0 0 0 1 1
Tuberous sclerosis syndrome 1 0 0 0 0 1
Undetermined early-onset epileptic encephalopathy 0 0 1 0 0 1
Usher syndrome type 2A 0 0 0 0 1 1
Usher syndrome type 2C 0 0 0 0 1 1
VISS syndrome 1 0 0 0 0 1
Ventriculomegaly-cystic kidney disease 1 0 0 0 0 1
Vertebral, cardiac, renal, and limb defects syndrome 2 1 0 0 0 0 1
Very long chain acyl-CoA dehydrogenase deficiency 0 1 0 0 0 1
Waardenburg syndrome type 2 1 0 0 0 0 1
Waardenburg syndrome type 4C 0 0 1 0 0 1
Wolfram syndrome 1 0 0 0 0 1 1
X-linked lymphoproliferative disease due to XIAP deficiency 1 0 0 0 0 1
X-linked osteoporosis with fractures 0 1 0 0 0 1
Xeroderma pigmentosum variant type 1 0 0 0 0 1
Zimmermann-Laband syndrome 1 0 0 0 0 1 1

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